Abstract
| Lingua originale | English |
|---|---|
| pagine (da-a) | 1272-1275 |
| Numero di pagine | 4 |
| Rivista | Neurobiology of Aging |
| Volume | 30 |
| Stato di pubblicazione | Published - 2009 |
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All Science Journal Classification (ASJC) codes
- Neuroscience(all)
- Geriatrics and Gerontology
- Developmental Biology
- Clinical Neurology
- Ageing
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Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. / La Bella, Vincenzo; Spataro, Rossella; Mandrioli, Jessica; Battistini, Stefania; Traynor, Bryan J.; Sabatelli, Mario; Restagno, Gabriella; Calvo, Andrea; Chiò, Adriano; Salvi, Fabrizio; Mora, Gabriele; Monsurrò, Maria Rosaria; Schymick, Jennifer; Ossola, Irene; Brunetti, Maura.
In: Neurobiology of Aging, Vol. 30, 2009, pag. 1272-1275.Risultato della ricerca: Article
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TY - JOUR
T1 - Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation
AU - La Bella, Vincenzo
AU - Spataro, Rossella
AU - Mandrioli, Jessica
AU - Battistini, Stefania
AU - Traynor, Bryan J.
AU - Sabatelli, Mario
AU - Restagno, Gabriella
AU - Calvo, Andrea
AU - Chiò, Adriano
AU - Salvi, Fabrizio
AU - Mora, Gabriele
AU - Monsurrò, Maria Rosaria
AU - Schymick, Jennifer
AU - Ossola, Irene
AU - Brunetti, Maura
PY - 2009
Y1 - 2009
N2 - Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation.
AB - Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation.
KW - SLA - FUS mutation - genetics
UR - http://hdl.handle.net/10447/50609
M3 - Article
VL - 30
SP - 1272
EP - 1275
JO - Neurobiology of Aging
JF - Neurobiology of Aging
SN - 0197-4580
ER -